ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.376-9T>G

gnomAD frequency: 0.00002  dbSNP: rs368900406
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000735227 SCV000863436 likely pathogenic MPV17-related mitochondrial DNA maintenance defect 2018-09-05 criteria provided, single submitter clinical testing RNA sequencing showed change in splicing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000768422 SCV001149840 pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2019-10-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000768422 SCV001439924 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000728355 SCV002131199 pathogenic not provided 2023-12-10 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the MPV17 gene. It does not directly change the encoded amino acid sequence of the MPV17 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs368900406, gnomAD 0.003%). This variant has been observed in individual(s) with peripheral sensorimotor neuropathy (PMID: 30298599). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 593343). Studies have shown that this variant results in skipping of exon 6, but is expected to preserve the integrity of the reading-frame (PMID: 30298599). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000768422 SCV004101662 pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2023-11-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000768422 SCV004193734 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2024-03-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728355 SCV000855914 uncertain significance not provided 2017-07-20 flagged submission clinical testing
OMIM RCV000768422 SCV000899174 pathogenic Charcot-Marie-Tooth disease, axonal, type 2EE 2019-04-29 no assertion criteria provided literature only

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